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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CPXCR1 Gene

protein-coding   GIFtS: 44
GCID: GC0XP088002

CPX chromosome region, candidate 1

 Explore 4 diseases affiliated with
CPXCR1 via our new
 Human Malady Compendium 
Biological research products
for CPXCR1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
CPX Chromosome Region, Candidate 11 2
CT771 2 3
Cancer/Testis Antigen 772 3
CPX Chromosomal Region Candidate Gene 1 Protein2

External Ids:    HGNC: 23321   Entrez Gene: 533362   Ensembl: ENSG000001471837   UniProtKB: Q8N1233   

Export aliases for CPXCR1 gene to outside databases

Previous GC identifers: GC0XP083274 GC0XP084971 GC0XP086037 GC0XP086774 GC0XP087808 GC0XP081584


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CPXCR1:
This gene is one of several genes identified in a region of the X chromosome associated with an X-linked cleft palate
(CPX) disorder. The encoded protein contains a motif similar to a motif found in zinc-finger proteins. Mutation
analysis of this gene has not revealed any mutation which causes the CPX disorder. Multiple alternatively spliced
variants, encoding the same protein, have been identified. (provided by RefSeq, Sep 2011)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_011651.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CPXCR1 gene promoter:
         FOXJ2 (long isoform)   Sox9   FOXJ2   NF-kappaB1   NF-kappaB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCPXCR1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CPXCR1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CPXCR1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq21.3   Ensembl cytogenetic band:  Xq21.31   HGNC cytogenetic band: Xq21.3

CPXCR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CPXCR1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP088002:  view genomic region     (about GC identifiers)

Start:
88,002,226 bp from pter      End:
88,009,786 bp from pter
Size:
7,561 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CPXCR_HUMAN, Q8N123 (See protein sequence)
Recommended Name: CPX chromosomal region candidate gene 1 protein  
Size: 301 amino acids; 34727 Da
Secondary accessions: B2R9F9 D3DTE7 Q96RS3

Explore the universe of human proteins at neXtProt for CPXCR1: NX_Q8N123

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8N123

  • CPXCR1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001171700.1  NP_149037.4  

    ENSEMBL proteins: 
     ENSP00000276127   ENSP00000362203  

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    Uscn Proteins for CPXCR1

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IEA--


    CPXCR1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    CPXCR1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR015880 Znf_C2H2-like
     IPR007087 Znf_C2H2

    Graphical View of Domain Structure for InterPro Entry Q8N123

    ProtoNet protein and cluster: Q8N123


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    miRNA
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    Inhib. RNA
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008270zinc ion binding IEA--


    CPXCR1 for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CPXCR1

    1 Interacting protein for CPXCR1 (Q8N1232) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    --P310162MINT-8107874
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CPXCR1
    Search CenterWatch for drugs/clinical trials and news about CPXCR1 / CPXCR 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CPXCR1 gene (2 alternative transcripts): 
    NM_001184771.1  NM_033048.5  

    Unigene Cluster for CPXCR1:

    CPX chromosome region, candidate 1
    Hs.458292  [show with all ESTs]
    Unigene Representative Sequence: NM_033048
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000276127(uc004efd.4 uc004efc.4) ENST00000373111

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    hsa-miR-875-3p hsa-miR-1206 hsa-miR-3145-3p hsa-miR-4282
    SwitchGear 3'UTR luciferase reporter plasmidCPXCR1 3' UTR sequence
    Inhib. RNA
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): CPXCR1 (NM_033048)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CPXCR1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CPXCR1 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CPXCR1
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    Additional cDNA sequence: 

    AF284767.1 AK098646.1 AK313768.1 BC027614.2 

    2 DOTS entries:

    DT.100687295  DT.97790621 

    12 AceView cDNA sequences:

    AF284767 AK098646 BQ432767 BU570042 BU171477 BG773380 BU568617 BQ429621 
    NM_033048 BX099988 BC027614 AA724780 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for CPXCR1    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b
    SP1:                                    
    SP2:              -                     


    ECgene alternative splicing isoforms for CPXCR1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CPXCR1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AACATAAATT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See CPXCR1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CPXCR1

    SOURCE GeneReport for Unigene cluster: Hs.458292

    UniProtKB/Swiss-Prot: CPXCR_HUMAN, Q8N123
    Tissue specificity: Expressed in a variety of fetal tissues

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CPXCR1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of human and mouse.

    Orthologs for CPXCR1 gene from 1/2 species (see all 2)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cpxcr11 , 5 CPX chromosome region, candidate 11, 5 63.94(n)1
    43.34(a)1
      X (49.48 cM)5
    3822391  NM_001033471.31  NP_001028643.21 
     1164489445 


    ENSEMBL Gene Tree for CPXCR1 (if available)
    TreeFam Gene Tree for CPXCR1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/163 NCBI SNPs in CPXCR1 are shown (see all 163    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1910276901,2
    --88000253(+) CGGATC/TACGAG 2 -- us2k10--------
    rs48931421,2
    C,F,A,H,--88000334(+) AGGAGT/CAGTTG 2 -- us2k113Minor allele frequency- C:0.09NS EA WA NA CSA 430
    rs78838151,2
    C,--88000340(+) agttgC/Tgagcc 2 -- us2k10--------
    rs1830350901,2
    --88000348(+) GCCCCC/TGTAGC 2 -- us2k10--------
    rs1858615901,2
    --88000354(+) GTAGCC/GCCAGC 2 -- us2k10--------
    rs1910038451,2
    --88000461(+) AGACAC/TTGTCT 2 -- us2k10--------
    rs48931431,2
    C,A,--88000519(+) GGTGGA/GTTCTT 2 -- us2k10--------
    rs78875311,2
    C,--88000553(+) agctgC/Tggacc 2 -- us2k10--------
    rs1831854961,2
    --88000568(+) CGGTGA/GGTGTT 2 -- us2k10--------
    rs78885161,2
    C,A,--88000597(+) gtgtcC/Tggagt 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for CPXCR1 (88002226 - 88009786 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CPXCR1: --
    Locus Specific Mutation Databases (LSDB): CPXCR1

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for CPXCR1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    CPXCR1 for disorders           About GeneDecksing

    4 diseases for CPXCR1:    About MalaCards
    cleft palate    cleft palate with ankyloglossia    uterine fibroid    leiomyoma

    Human Genome Epidemiology (HuGE) Navigator: CPXCR1 (1 document)

    Export disorders for CPXCR1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CPXCR1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with CPXCR1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Physical and transcriptional mapping of the X-linked cleft palate and ankyloglossia (CPX) critical region. (PubMed id 11499681)1, 2, 3 Braybrook C.... Stanier P. (2001)
    2. Genetically distinct subsets within ANCA-associated va sculitis. (PubMed id 22808956)1 Lyons P.A....Smith K.G. (2012)
    3. The DNA sequence of the human X chromosome. (PubMed id 15772651)2 Ross M.T.... Bentley D.R. (2005)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 53336 HGNC: 2332 AceView: CPXCR1 Ensembl:ENSG00000147183 euGenes: HUgn53336
    ECgene: CPXCR1 H-InvDB: CPXCR1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CPXCR1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CPXCR1 gene:
    Search GeneIP for patents involving CPXCR1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
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